UNC93B1 and Autoimmunity: In terms of phenotype, the degree of autoimmunity seen in SPENCD is more reminiscent of gain-of-function mutations in UNC93B1 and TLR7 (reviewed in [60]), where severe neurological involvement can also be seen (64, 65), rather than disease due to defective processing or enhanced sensing of cytosolic nucleic acid (as in AGS or STING gain-of-function), where frank autoimmunity is less prominent.